Varaico: Literature-Extracted Genetic Variants

Gene:DHX29
Variant:p.L847P

DHX29

72 papers

RefSeq Summary

This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation,...

Pfam Domains

UBA_DHX29aa 123–177UCSCATP-dependent RNA helicase DHX29, UBA domain
UBA_DHX29aa 123–177UCSCATP-dependent RNA helicase DHX29, UBA domain
DSRM_DHX29aa 413–515UCSCATP-dependent RNA helicase DHX29, DSRM-like
DSRM_DHX29aa 413–515UCSCATP-dependent RNA helicase DHX29, DSRM-like
DEADaa 576–744UCSCDEAD/DEAH box helicase
Helicase_Caa 847–986UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DExH-box helicase 29

HGNC Previous Symbol

DDX29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019030.4
p.L847P
c.2540T>C
Surrounding Variants
1 paper
NM_019030.4
p.L849F
c.2545C>T
1 paper
NM_019030.4
p.M840I
c.2520G>T
1 paper
NM_019030.4
p.M840I
c.2520G>C
1 paper
NM_019030.4
p.M840I
c.2520G>A
1 paper
NM_019030.4
p.A836S
c.2506G>T
1 paper
NM_019030.4
p.K779K
c.2337A>G
1 paper
NM_019030.4
p.E778*
c.2332G>T
1 paper
NM_019030.4
p.R725H
c.2174G>A
1 paper
NM_019030.4
p.Q723H
c.2169G>T
1 paper
NM_019030.4
p.Q723H
c.2169G>C
1 paper
NM_019030.4
p.K719N
c.2157G>T
1 paper
NM_019030.4
p.K719N
c.2157G>C
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